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New indication for Promacta® to treat patients with severe aplastic anaemia
 
On 26th August, the FDA approved a new application for Promacta® (eltrombopag) to treat patients with severe aplastic amaemia (SAA), a rare blood disorder caused by bone marrow failure. Developed by GSK, Promacta® was originally approved by the FDA in November 2008 to treat Idiopathic Thrombocytopenic Purpura, an autoimmune coagulation disorder. Promacta® is now indicated for SAA patients who have not, or insufficiently, responded to current treatment options, such as immunosuppressive therapy.

Read the press release

 
 

Significance of registries for furthering the cause of improving knowledge in rare diseases


In an article published in Source Code for Biology and Medicine , authors present the importance of Rare disease registries (RDRs) to improve knowledge and monitor interventions for rare diseases and dispel myths in RDR development as well as outline key criteria for robust and sustainable implementation of registries. The authors stress that if designed appropriately, patient and disease related information captured within them could become the basis for effective diagnosis and new therapies, which would greatly help in reaching the goals of International Rare Diseases Research Consortium (IRDiRC) by 2020. In this paper, the authors contend that “RDR requirements will also evolve in response to a number of factors such as changing disease definitions and diagnostic criteria, the requirement to integrate patient/disease information from advances in either biotechnology and/or phenotypying approaches, as well as the need to adapt dynamically to security and privacy concerns” .

According to the experiences of the authors, “designing a durable RDR which encompasses all the facts that will help that dramatically improves our understanding of disease processes through major advances in biotechnology and phenotyping, is a definite possibility” . The authors finally report that the data recorder in RDRs will not only help further research and development but also will cater towards improvements in clinical care policy and population-wide outcomes for all people with rare diseases.
Read the open access article
 

UK Rare Diseases Strategy




The UK government has presented a new plan designed to improve "support, treatment and research" for people affected by rare diseases.
The aim of the UK Rare Diseases Strategy, launched by health minister Lord Howe on the 22th of November, is to set out a country-wide vision for building on "our reputation as a world leader in rare disease research, including revolutionary genomic research to help transform diagnosis and treatment".
The key elements of the strategy include "a clear personal care plan for every patient that brings together health and care services, with more support for them and their families". It will also offer support for specialised clinical centres and "better education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment".
The government has also announced that the National Institute for Health Research is establishing a Rare Diseases Translational Research Collaboration (TRC), putting in £20 million over four years. Lord Howe noted that "for the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases". He concluded by saying that "the UK already leads the way with ground-breaking research to better understand and treat these illnesses and this strategy will help cement our reputation as the driving force in this field".
Access the UK strategy

 

 

July 2013

MYASTHENIA 2013 International Conference (supported by the FIGHT-MG network and the French Association against Myopathies)

1-2 July, Paris, Pasteur Institute, France /www.myasthenia2013.com/

Public Conference on Therapeutic Strategies for Leukodystrophies

2 July, Berlin, Germany   www.leukotreat.eu/

International Summer School for Clinical practice guidelines on rare diseases (free course)

8-12 July 2013, Istituto Superiore di Sanità, Rome, Italy  www.iss.it
5 places available for patient representatives  Deadline for application: 8 May

Haemophilia centres certification system across Europe

11 July, Rome, Italy   www.euhanet.org/

8 th International Prader-Willi Syndrome Conference

17-21 July, Cambridge UK ipwso.org


20th International Scientific Meeting of the Velo-Cardio-Facial Syndrome Educational Foundation

18-21 July, Dublin, Ireland  www.22q11ireland.org

 
Immune thrombocytopenic purpura: higher sustained response rates when adding rituximab to dexamethasone in newly diagnosed patients
 
Consult the PubMed abstract
 
To read more about "Immune thrombocytopenic purpura"

 
Blood. ; 121(11):1976-81 ; March 2013
 

The EURORDIS patient survey on rare disease registries has encountered a big success. The preliminary results are out!

EURORDIS is conducting a survey amongst patients and patient representatives on rare disease registries in order to gather their perspective and expectations on this important topic. 

As of December 2012, EURORDIS has received 3500 responses from all over Europe representing hundreds of different rare diseases.  Although the survey is not closed yet, the preliminary results indicate that the vast majority of patients agree that the European Commission should propose legislation to uniformly regulate rare disease registries across Europe.

source: eurordis
 

EUROPEAN HAEMOPHILIA NETWORK

EUHANET is a project aimed at establishing a network of haemophilia centres to work together on a number of related projects to improve the care of European citizens with inherited bleeding disorders.


PARTICIPANTS
The project will be directed from Sheffield in the UK by Dr Mike Makris. There are five associated partners:

  • European Haemophilia Consortium (EHC)
  • European Association for Haemophilia and Allied disorders (EAHAD)
  • University Medical College Utrecht
  • Medical Data Solutions and Services Ltd (MDSAS) 
  • and Fondazione IRCCS Ca’ Granda in Milan

In addition 84 centres from 26 countries have already committed to participating and were part of the original funding application.


FUNDING THE PROJECT
Sixty percent of the funding is provided by the European Commission via its Executive Agency for Health and Consumers (EAHC) and the rest will be raised from industry.


PROJECT DURATION
The project started on 1st June 2012 and will continue until 31st May 2015

EUHANETpdf_button(file.pdf)
 
 

Researchers seek better understanding of blood disorders

Researchers from Finland and the United States have shed light on the mechanisms at play in certain devastating haematological disorders, paving the way for the development of new disease-specific treatments.

The team, who present their findings in the journal Nature Structural & Molecular Biology, uncovered mutations in a protein structure in enzymes that convert the cell-signalling molecules that regulate blood cell formation.

These small cell-signalling protein molecules are called cytokines and they regulate blood cell formation and activity via a signal pathway mediated by Janus kinases (JAKs), a family of enzymes.

read more: eurordis external link

annual EUCERD report

eucerd

2012 report on the State of the Art of Rare Disease Activities in Europe covers activities up to the end of 2011 and is composed of  5 volumes.

 

eucerd external link
 
 

February 29 - Rare Disease Day 2012

celebration of the European Rare Disease Day: A Rare Day for Very Special People. The organisation of this awareness Day is coordinated by Eurordis at the European level and by National Alliances at the national level. Many events will take place throughout Europe.

rdd09

external link
 

7th ICORD Tokyo

4-6 February 2012 Convention Hall, University of Tokyo, Japan

V II International Conference on Rare Diseases and Orphan Drugs

A global meeting on international cooperation and public health policies focussing on research, diagnosis, development of and access to treatment, and care for rare diseases, will be held in Tokyo.

The themes are:
  • Research
  • Diagnosis
  • Treatment
  • Orphan drugs
  • Health policies on rare diseases and orphan drugs globally
  • Ethical issues and social aspects of rare diseases
  • International networking
  • Patients' needs

for more information:
http://www.prip-tokyo.jp/icord2012

source: Eurordis
 

Video on rare diseases

RARE DISEASES CONFERENCE 2011 - Video

A video presenting European initiatives for rare diseases and featuring Commissioner for Health and Consumers was presented at the Rare Diseases Conference 2011.

eahc logo

Video

source: eahc

People living with rare diseases ask for plans

People living with rare diseases ask for plans, or national strategies, in 25 European countries.

Diagnosis

Health professionals have long been so helpless in front of a rare disease that they often did not even dare to make a diagnosis.  Not any more. Diagnosis is now available for about 1,900 diseases, though not one single European country can provide all existing tests. Use of existing treatment and drugs has improved. Increased numbers of orphan drugs are now on the market. Rapid progress is made in advanced therapies. Today no one should have the right to say to a family: “nothing can be done”. EurordisCare studies* show that diagnosis alone considerably improves quality of life  and life expectancy by reducing unnecessary medical interventions, inappropriate treatments (including psychiatric), the birth of other affected children, maladapted family behaviour and the loss of confidence in medecine. No diagnosis: no treatment. For example: gene therapy, recently successful for children born with adrenoleukodystrophy, must be implemented as early as possible in life to prevent irreversible brain damage.

National plans

How to give isolated patients and families equal access to early diagnosis and care? By bringing together all available expertise and resources. In 1993, Denmark organised two centres of expertise for rare diseases, then Sweden and Norway. In 2001, Italy designated regional centres. France implemented the first national plan for rare diseases from 2005 to 2008, soon to be followed by Bulgaria, Romania, Spain and Portugal. Following the Recommendations of the European Council of Ministers, plans are currently in preparation in Germany, Hungary, Ireland, Denmark, Sweden…Everywhere, patients and their associations are playing a key role throughout the process. What do we want in a national plan or strategy? Integration of all initiatives and resources: improved diagnosis linked to better awareness, information, training of professionals, clinical laboratories and centres of expertise; centres of expertise instrumental for research, registries and clinical trials, good practice guidelines, improved social care. Last but not least, long term sustainability of appropriate health and social policies, vital necessity for 30 millions patients affected in Europe by one of the 6,000 to 8,000 rare diseases.

Christel Nourissier General Secretary, Rare Disease Europe (EURORDIS) source: rarediseaseblogs

Learning from each other across Europe

Norwegian-Romanian (NoRo) Partnership for Progress in Rare Diseases

After three years of intense work a new service for Romanian rare disease patients is set to open in June 2011. The pilot Centre for Rare Diseases and virtual Rare Disease Training E-University is the first of its kind in Romania and will encompass a day centre for rare disease patients with autistic behaviour, a respite care service and a comprehensive training programme.



read more..

source: Eurordis

Rare disease events in Europe

source: Eurordis
"Fostering international collaboration on rare diseases research: launch of the International Rare Disease Research Consortium (IRDiRC)"
 

Flora Peyvandi attended the meeting "Fostering international collaboration on rare diseases research: launch of the International Rare Disease Research Consortium (IRDiRC)" organized by the National Institutes of Health in Bethesda, April 5-8, 2011. She made a presentation on the experience of the EN-RBD network and on the collaboration with the American Thrombosis and Hemostasis Network (ATHN).


http://www.eurunion.org

Eurobarometer: Rare disease awareness

 The survey, which was conducted amongst 26 574 EU citizens in all 27 Member States between 25 November and 17 December 2010, examined Europeans' awareness and knowledge of rare diseases and their support for policy initiatives and actions taken at national and EU level.

Key findings from the survey:

Strong support for action at National and European level

* Almost all agree that national health authorities should give support to those suffering from rare diseases (96%) and fully reimburse their medication, even if it is very expensive (93%). * 95% agree that there should be more European cooperation, and that those affected should have the right to access appropriate care in another Member State. There is also wide support for introducing national strategies for rare diseases.

Support for improved research, access to care and awareness raising:

* Over 90% of respondents agree that allocating resources for research, access to treatment, communication and patient support is justified. * Almost all (96%) agree that resources should be allocated to help people suffering from rare diseases access drugs. Only 2% were opposed to this. * 60% agree that allocating resources to improve awareness of rare diseases is justified and a further 33% think it is somewhat justified.

Good general understanding, but detailed knowledge and awareness remain low

* 63% chose the correct definition of rare diseases, while a minority (14%) believe that these are conditions that cannot be treated and that nobody cares about. * 17% of those surveyed know someone suffering from a rare disease, but a larger proportion (40%) have never heard of anyone affected.

John Dalli, European Commissioner for Health and Consumer Policy, said: "I am encouraged to see that EU citizens want more European co-operation on rare diseases. This is important, because the required medical expertise may not be available within national borders. On this 4th World Rare Diseases Day, I want to stress that the European Commission is engaged in added value action to help citizens access the care they need across the EU."

Press Release from the European Commission

 

Kyoto, Japan Update

March 15, 2011 15:50 EDT

The Council of ISTH and Society members express sincere sympathy to all who sustained losses in the recent earthquake in Japan. Our Japanese Local Organizing Committee reports that the city of Kyoto is not damaged in any way and, pending further developments, it is anticipated that the ISTH Congress will proceed as planned.

isth2011.com

February 28

Rare Disease Day 2011

celebration of the European Rare Disease Day: A Rare Day for Very Special People. The organisation of this awareness Day is coordinated by Eurordis at the European level and by National Alliances at the national level. Many events will take place throughout Europe.

rdd09

external link
Hemophilia 2010 Congress

On July 10-14, 2010, the Hemophilia World Congress, World Federation of Hemophilia (WFH) was held in Buenos Aires, Argentina.

Prof. Flora Peyvandi, from the University of Milan, presented the state of the art of the European Network of Rare Bleeding Disorders (EN-RBD) project ( Abstract 1 )

Dr Danijela Mikovic, from the Haemostasis Department and Haemophilia Center, Belgrade, Serbia, presented data on clinical manifestations in women with rare bleeding disorders obtained by the analysis of information on patients entered in the EN-RBD database ( Abstract 2 )

Moreover results on the new bleeding score specifically designed for rare bleeding disorders were presented as a poster ( Abstract 3 )

Buenos Aires 2010
21st International Congress on Thrombosis 2010
Milan, July 6-9, 2010

The Thrombosis Congress, organized by the Mediterranean League Against Thromboembolic Diseases, has an established role and tradition in the field of basic and clinical research on arterial and venous thromboembolic disorders.

February 28

Rare Disease Day 2010

celebration of the European Rare Disease Day: A Rare Day for Very Special People. The organisation of this awareness Day is coordinated by Eurordis at the European level and by National Alliances at the national level. Many events will take place throughout Europe.

rdd09

external link

ISTH 2009

XXII Congress of The International Society on Thrombosis and Haemostasis

July 11-16 2009

Boston U.S.A.

European Symposium on "Optimal Clinical Use of Blood Components"
April 24th-25th 2009, Wildbad Kreuth, Germany

Clotting factor concentrates and haemophilia treatment


Rare bleeding disorders - Flora Peyvandi presentation  

download the program

15th International Meeting of Danubian Laegue Against Thrombosis and Haemorrhagic Disorders

Belgrade, May 14-16, 2009

danubianleaguebelgrade.com

2 nd Annual EAHAD Congress,

Munich Cultural Centre (Gasteig); Munich - Germany

26 th - 27 th February 2009

Professor Flora Peyvandi, on behalf of the European Network on Rare Bleeding Disorders (EN-RBD), presented the state of the art of the EN-RBD project, during the second congress of the European Association for Haemophilia and Allied Disorders (EAHAD).

presentation

EAHAD Munich Program

EPPOSI Workshop

March 2009

EPPOSI Workshop on Patients Registries for Rare DisordersNeed for data collection to increase knowledge on rare disorders and optimize disease management and care

Wednesday 18 - Thursday 19 March 2009
Scientific Institute of Public Health
Brussels, Belgium

Program

February 28

Rare Disease Day 2009

celebration of the European Rare Disease Day: A Rare Day for Very Special People. The organisation of this awareness Day is coordinated by Eurordis at the European level and by National Alliances at the national level. Many events will take place throughout Europe.

rdd09

external link
3rd December 2008
"Rare Diseases and Disabilities. We are rare but numerous"
A meeting organized by the G.Dossetti Association and held at the Senate Palace, Campidoglio Square, Rome, under the auspices of the Ministry of Welfare, Health and Social Policies, the Italian National Istitute of Health, numerous scientific societies, drug industry associations and local authorities.
This has been an important occasion for patients associations, political authorites, medical doctors, researchers and drug industries to meet and join forces to attract more interest and funding into rare diseases.
In this framework, Flora Peyvandi presented the current project on rare bleeding disorders and promoted the need for a National Registry, for a cooperation with the industries at an international level. Her presentation can be downloaded here.

European Principles of Haemophilia Care (EHC/EAHAD)-27 January 2009

Flora Peyvandi have been invited to the European Parliament as a representative of the EN-RBD network

European Haemophilia Consortium, in collaboration with the European Association for Haemophilia and Allied Disorders (EAHAD) will launch the

European Principles of Haemophilia Care in the European Parliament

www.ehc.eu/

Annual workshop of the EN-RBD working group will be held in Copenhagen , Denmark on 16th December 2008
www.rbdd.eu

XXVIII International Congress of the World Federation of Haemophilia (WFH) 1 th - 5 th June, 2008, Istanbul, Turkey

Milan - April 14-15, 2008 - First meeting

MENORRHAGIA AND OTHER GYNAECOLOGICAL PROBLEMS IN WOMEN AFFECTED BY BLEEDING DISORDERS
www.wrbd.org
- The EHA (European Hematology Association) has organized the 12th Congress which will take place on the 7-10 of June, 2007 in Austria, Vienna.
We advice you to visit the EHA web-site (www.ehaweb.org), where you can download the final announcement
- The ISTH (International Society on Thrombosis and Haemostasis) has organized the XXI Congress which will take place on the 6-12 of July, 2007 in Switzerland, Geneva.
We advice you to visit the ISTH web-site (www.isth2007.com), where you can download the final announcement
 
 
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